Liu Jie, Gao Chengwen, Wang Liping, Jian Xuemin, Ma Mingdi, Li Tong, Hao XiWei, Zhang Qian, Chen Yuanbin, Zhao Jing, Niu Haitao, Zhu Chengzhan, Zhao Jie, Xia Nan, Li Zhiqiang, Dong Qian
Department of Pediatric Surgery, Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China.
Department of Pediatric Surgery, Yijishan Hospital of Wannan Medical College, Wannan Medical College, Wuhu, China.
Front Oncol. 2021 Apr 21;11:669560. doi: 10.3389/fonc.2021.669560. eCollection 2021.
Hepatoblastoma (HB) is the most common malignant tumor in the liver of infants and young children. The incidence rate varies among different populations. However, genetic differences in HB patients with different epidemiological and ancestral backgrounds have not been found. In this study, we aim to analyze data from 16 patients treated at our center and collected published data from whole-exome sequencing studies on HB, and to explore the genetic differences between races. Data from a total of 75 HB patients of three races (24 Asian, 37 Caucasian and 14 Hispanic) were analyzed. We identified 16 genes with recurrent somatic mutations and 7 core pathway modules. Among them, the Wnt/β-catenin pathway had the highest mutation rate, and the mutation frequency in Caucasians and Hispanics was approximately twice as high as that in Asians. In addition, this study compared the characteristics of gene mutations between patients who underwent preoperative chemotherapy and those who did not and found that there was no significant difference in gene mutations between the two groups. We also preliminarily verified the function of cancer-associated candidate genes (CTNNB1 and KMT2D). In conclusion, we found ethnic differences in HB biology at the genomic level, which expands our understanding of the genetics of HB in children.
肝母细胞瘤（HB）是婴幼儿肝脏中最常见的恶性肿瘤。其发病率在不同人群中有所差异。然而，尚未发现具有不同流行病学和祖先背景的HB患者存在基因差异。在本研究中，我们旨在分析在我们中心接受治疗的16例患者的数据，并收集已发表的关于HB全外显子测序研究的数据，以探索不同种族之间的基因差异。对来自三个种族的总共75例HB患者（24例亚洲人、37例白种人和14例西班牙裔）的数据进行了分析。我们鉴定出16个具有复发性体细胞突变的基因和7个核心通路模块。其中，Wnt/β-连环蛋白通路的突变率最高，白种人和西班牙裔的突变频率约为亚洲人的两倍。此外，本研究比较了接受术前化疗和未接受术前化疗患者的基因突变特征，发现两组之间基因突变无显著差异。我们还初步验证了癌症相关候选基因（CTNNB1和KMT2D）的功能。总之，我们在基因组水平上发现了HB生物学的种族差异，这扩展了我们对儿童HB遗传学的理解。
